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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. CHM, choroideremia (Rab escort protein 1)
Sequence ID:NM_000390
NM_001145414
NM_001037312
RefSeqGene ID:NG_009874
Entrez Gene ID:1121
Ensembl ID:ENSG00000188419

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CHOROIDEREMIA 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xq21.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 85116185 - 85302309

 Exon Info From UCSC:
NM_000390
NM_001145414

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100069226Full LengthBC172532choroideremia (Rab escort protein 1)
100062979BC156457choroideremia (Rab escort protein 1)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000381  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000390 NP_000381 P24386 GDI
NM_001145414 NP_001138886    

Related Sequences

 
mRNAGenPeptSwissProt
M83773 AAA61032 P24386
BC065702 AAH65702 Q8N917
BC073987 AAH73987 Q8N917
BC105969 AAI05970 Q8N917
BC130494 AAI30495 P24386
BC130496 AAI30497 P24386
BC156457 AAI56458  
BC172532 AAI72532  
AY255796 AAP15253 Q8N917
AK095883 BAC04640 Q8N917
AK291160 BAF83849 A8K545
AK299323 BAG61331 B4DRL9
X57637 CAA40855 P24386
X78121 CAA55011 P24386

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens CHM NP_000381 R.norvegicus Chm 24942   NP_058763 84
M.musculus Chm 12662 Gene Info NP_061288 84
A.gambiae AgaP_AGAP010419 1272629   XP_311529 42
D.melanogaster Rep 37246   NP_477420 39
A.gambiae AgaP_AGAP012773 1268809   XP_307378 35

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)